Respiratory problems in Schimke immuno-osseous dysplasia [SIOD]

SIOD is an autosomal recessive disorder caused by mutations in SMARCAL 1 gene. It is characterized by spondyloepiphyseal dysplasiawith disproportionate short stature, facial dysmorphism, nephrotic syndrome with focal glomerulosclerosisand progressive renal failure, recurrent lymphopenia, T-cell immunodeficiency and pigment naevi. The prevalence of SOID is estimated at 1 in 1-3 mln live births. Aim: To present clinical observations in pts with SIOD. Material: A retrospective review of 4 case reports of SIOD pts. Results: Molecular analysis confirmed different mutations in SMARCAL 1 gene in pts and their parents. Pts 2 and 4 were related. The pts were born with intrauterine growth restrictionbut no SIOD features were observed. They appeared with time. Because of terminal renal failure all pts underwent RT. Primary immunodeficiencywas also observed. There were respiratory symptoms present. They ranged from staphylococcal (SA) pneumonia (pt 1) to mild upper respiratory tract infections(pt 4). Chest X-rays were normal. Conclusions: It may be possible that differences in frequency and severity of respiratory infections in SIOD pts are due to different mutations in SMARCAL 1 gene.